Disorders


 

CHRNA1-Related Multiple Pterygium Syndrome, Lethal Type


 

OMIM

GeneLocusProtein
CHRNA12q31.1Acetylcholine receptor subunit alpha

Laboratory Test Method Prenatal Carrier *
Medgene, MedGene - Bratislava, Slovakia  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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